Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
EXOSC9 Q06265 exosome component 9 Enzyme 1.8E-11 0.705 0.423
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
TIMM50 Q3ZCQ8 translocase of inner mitochondrial membrane 50 1.8E-03 0.678 0.500
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577
PC P11498 pyruvate carboxylase Enzyme 1.4E-02 0.515 0.808
UQCRFS1 P47985 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 0.19 0.558 0.654